NM_000528.4(MAN2B1):c.2212del (p.Glu738fs) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Nov 24, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000623866.1

Allele description [Variation Report for NM_000528.4(MAN2B1):c.2212del (p.Glu738fs)]

NM_000528.4(MAN2B1):c.2212del (p.Glu738fs)

Gene:
MAN2B1:mannosidase alpha class 2B member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs)
HGVS:
  • NC_000019.10:g.12649969del
  • NG_008318.1:g.21810del
  • NM_000528.4:c.2212delMANE SELECT
  • NM_001173498.1:c.2209del
  • NP_000519.2:p.Glu738fs
  • NP_001166969.1:p.Glu737fs
  • NC_000019.9:g.12760783del
  • NM_000528.3:c.2212delG
Protein change:
E737fs
Links:
dbSNP: rs1555706706
NCBI 1000 Genomes Browser:
rs1555706706
Molecular consequence:
  • NM_000528.4:c.2212del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173498.1:c.2209del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000741127Ambry Geneticscriteria provided, single submitter
Pathogenic
(Nov 24, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741127.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 21, 2020

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